Does personalized genomics pit privacy against ethics?

As genomic technology becomes available to the public and the cost of …

Today's issue of Nature contains the latest milestone on the road to personal genomics, as researchers are reporting the complete sequencing of the genomes of two more people, one Asian, one Yoruban. The sequencing was done relatively quickly and cheaply using a technique that didn't even exist when Bill Clinton presided over the announcement that the first human genome was done. In light of this and other technological developments, which are bringing genomic information within reach of more of the population, the journal has taken the opportunity to consider its implications: how do we safeguard this information, and how do we use it ethically?

Nature has made two commentariesavailable to the public for a month, and is hosting an opinion forum for others to discuss the issues raised by them. Both perspectives focus on different aspects of a single tension: genomic information is incredibly personal, and therefore worthy of protection, yet we, both individually and as a society, get more out of it when that information is publicly available.

The first essay focuses on direct-to-consumer genomics services that, for a fee, will scan your genome to determine which version of many common genetic variants you carry. These services have raised ethical concerns from the start, and California eventually cracked down on them after determining they were performing medical tests without physician involvement. The Nature essay takes a somewhat contrarian view, arguing that, "a genome scan reveals information that is medical, genealogical and recreational." Because of that, its authors argue, we need to see how personal genomic information winds up being used in practice before we actually attempt to regulate it.

At the same time, however, they dismiss the arguments of the companies that offer these tests, which suggest that regulation would interfere with individuals' right to know about their own genetic inheritance. The authors term some of the corollaries of this argument "imaginative fictions"—genomic data is unlikely to be free of commercial and legal implications, and people are unlikely to obtain the expertise needed to interpret this information on their own. At the same time, the authors note, it's far from clear that the average MD could, either.

In the end, the authors conclude, genomics data will only make sense when embedded in a larger data framework that includes medical history and lifestyle data. As a result, successful past models, such as the Genetic Information Nondiscrimination Act, simply won't function properly as a model for regulating genomics. What will work may not be clear until those frameworks are actually developed.

The second essay looks at how the availability of genomic data will play out within the larger medical research community. Patrick Taylor of Harvard Medical School largely agrees with one aspect of the other essay, namely that genomic information will only really make sense when integrated into a data framework that includes electronic medical records. The problem is, however, that this forces an uncomfortable balance between privacy and ethical concerns, nicely summed up by the essay's title, "When consent gets in the way."

Taylor says that, so far, we've tended to equate privacy with data ownership and control; if people dictate the access to their medical data, the reasoning goes, then they retain effective ownership of the data, and can safeguard their privacy. Because of both medical ethics and past abuses, the medical research community has extremely strict guidelines about how it obtains consent from people enrolled in medical studies. In the current age, that informed consent has often involved an agreement to provide access to medical records.

But that model breaks down when it comes to large collections of digitized genomic data. For one thing, it's relatively easy to inform someone about the potential of receiving a placebo during a drug trial; it's much harder to get them to the point where they can provide informed consent about datamining medical records that include genomic data. The flipside is that datamining expeditions will be harder to run through the ethical approval process, since, by their nature, they tend to be rather open-ended.

What gets lost in this focus on privacy and private ethics, Taylor argues, is a focus on the big picture of public ethics. All of society benefits from medical research, and often the members that will benefit the most (he cites the elderly and minorities) are the least likely to give informed consent. The solution, in his view, is to develop a framework in which the privacy of genomics data can be protected without invoking the consent of the genome's owner for every access. "If we protect privacy effectively," Taylor writes, "we will not reduce ethics to autonomy, and autonomy to data ownership."

I'm not entirely certain I agree with all of the arguments presented by these essays, and they certainly go against some of the ways in which I expect to protect some of my digital identity. But, in any case, it's interesting to read a persuasive contrarian view.